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PubMed1996

Angiotensin converting enzyme gene polymorphism: potential silencer motif and impact on progression in IgA nephropathy.

Since the renin angiotensin system (RAS) is established as an important factor in renal disease progression, we determined whether RAS alleles that have been linked to variability in outcome in several cardiovascular diseases also affect progression of IgA nephropathy. These genetic variants include: (1) angiotensin I converting enzyme deletion polymorphism in intron 16 (ACE I/D), reported to be associated with increased risk of myocardial infarction as well as left ventricular hypertrophy; (2) a point mutation in the angiotensinogen (Agt) gene resulting in a methionine to threonine substitution at residue 235 (M235T), reported to be associated with hypertension in Caucasians; and (3) an angiotensin receptor type I (ATR) A to C transition at bp 1166 (A1166C) which shows synergy with the deleterious effects of the ACE DD genotype in myocardial infarction. We examined these polymorphisms by PCR amplification of genomic DNA samples from 64 Caucasian patients in the USA (age 6 to 83 years) with biopsy-proven IgA nephropathy whose renal status was followed for an average of almost seven years. Patients who presented with and maintained normal serum creatinine (Cr, < 1.5 mg/dl), had ACE genotype frequencies of II:35%, ID:61%, DD:4%. By contrast, in patients with progression (initially normal Cr increased to a mean of 4.5 +/- 0.86 mg/dl), ACE genotype frequencies were II:22%, ID:44%, DD:33% (P = 0.057 by Fishers's exact test, vs. non-progressors). The association of the DD genotype with progression was even more striking when patients with other risk factors (hypertension and/or heavy proteinuria) were excluded. In this subgroup, the genotype frequencies in patients with stable creatinine versus those with deterioration in renal function was 53%, 47%, and 0% versus 0%, 40%, and 60%, respectively, for II, ID, and DD genotypes (P = 0.009 by Fisher's exact test, progressors vs. non-progressors). Further, sequence analysis of the I gene polymorphism revealed a potential 13 bp silence motif. Neither the Agt 235T nor the ATR A 1166C gene variants, however, was associated with deterioration of renal function. Taken together, these results indicate that, although polymorphism in each of the three genes in the RAS system has been linked to cardiovascular diseases, only the ACE I/D polymorphism is associated with progressive deterioration in renal function in IgA nephropathy. Since previous observations link ACE polymorphism with ACE activity, these findings imply a widespread importance of ACE in modulating destructive processes in different organs.

Alleles↗
PubMed2005

No positive association between adrenergic receptor variants of alpha2cDel322-325, beta1Ser49, beta1Arg389 and the risk for heart failure in the Japanese population.

AIMS: We investigated the correlation of adrenergic receptor polymorphisms, alpha(2c)Del322-325, beta(1)Ser49Gly and beta(1)Arg389Gly, with the risk of heart failure in the Japanese population. METHODS: These polymorphisms were analysed by polymerase chain reaction-restriction fragment length polymorphism in patients with chronic heart failure due to idiopathic dilated cardiomyopathy (DCM) and compared with the control group. RESULTS: There were no differences or any trends in the allele and genotype frequencies of the beta(1)Ser49Gly and beta(1)Arg389Gly polymorphisms. The allele frequency of the alpha(2c)Del322-325 variant was lower in patients than in controls (0.11 vs. 0.04, P = 0.011 < 0.017, by Bonferroni correction), while the genotype frequency just failed to reach significance (P = 0.022 > 0.017, by Bonferroni correction). CONCLUSIONS: In this population, the variants beta(1)Ser49, beta(1)Arg389, and alpha(2c)Del322-325 do not appear to be risk factors for chronic heart failure due to DCM. The alpha(2c)Del322-325 variant may in fact confer some protection.

Aged↗
PubMed1991

HLA-D locus associations in alopecia areata. DRw52a may confer disease resistance.

Because predisposition to autoimmunity has been associated with HLA-D alleles and alopecia areata is hypothesized to be a T-cell mediated autoimmune hair loss, we determined DR and DQ alleles in 88 white and 10 American black patients with alopecia areata as well as controls with the use of restriction fragment length polymorphism typing with cDNA probes. White patients with alopecia areata have an increase in the phenotype frequencies of DR4 and DQw8 and an increase in genotype frequencies of DR4 and DR5 (now DRw11[5]). These associations are in agreement with those reported in two other studies but are not significant when corrected by the number of HLA antigens tested. Sixty-one percent of all patients with AA have DR4 and/or DRw11(5) specificities vs 40% of controls, with more DR4,DRw11(5) and DQw7(w3), DQw8(w3) heterozygotes among patients. DQw6(w1) phenotype frequencies and DRw52a phenotype and genotype frequencies are significantly decreased in patients with alopecia areata relative to controls. This highly significant negative association with the HLA DRB3 allele DRw52a in whites persisted even when DR4- or DRw11(5)-positive individuals were excluded from the patient and control groups. These data suggest that HLA-DR4 and DRw11(5) with their associated DQw7(w3) and DQw8(w3) specificities may confer susceptibility to alopecia areata, while DRw52a may confer resistance.

Adolescent↗
PubMed1999

Data on the PCR Turkish population based loci: LDLR, GYPA, HBGG, D7S8, and Gc.

Allele and genotype frequencies for the five PCR-based loci were analyzed in 157 unrelated Turkish individuals. The five PCR-based loci included LDLR, GYPA, HBGG, D7S8, and Gc. The results of the chi-square and exact tests showed that the genotype distribution at the LDLR, GYPA, D7S8, and Gc loci did not significantly differ from the Hardy-Weinberg Expectation (HWE). However, the genotype distribution at the HBGG locus did not conform to HWE. Moreover, the genotype frequencies calculated in this study were compared with the published genotype frequencies of US African American and US Caucasian populations. The Turkish population was significantly different at the HBGG locus from the US Caucasian population. However, there were highly significant differences at the LDLR, HBGG, and Gc loci between the Turkish and African American populations.

Adult↗
PubMed2001

Calcitonin receptor gene polymorphism in japanese women: correlation with body mass and bone mineral density.

We have identified a polymorphism at position 1377 of the calcitonin receptor (CTR) gene which generates CC, CT, or TT genotype. In this study, the genotypes of the CTR and their relationship with the body height, the body weight, the bone mineral density (BMD), and osteocalcin levels were examined in 152 healthy Japanese women aged 16-43 years. The CTR genotypic frequencies in the Japanese population were 77.0% for CC, 20.4% for CT, and 2.6% for TT. The height, BMD, and osteocalcin levels were not significantly different among these three genotypes. The body weight adjusted for height in these three groups was significantly different in the order of TT, CT, and CC (P = 0.0454 by analysis of covariance). In combined analysis of the VDR genotype (B,b) and the CTR genotype (C,T), the body height was found to be significantly different between CCB and others (P = 0.0236). In addition, analysis of the CTR genotypic frequency using 64 blood samples from Japanese and 47 blood samples from Caucasians indicated that there was a significant difference between the two races (P < 0.0001). We found that C allele was predominant in the Japanese population, however, Caucasians have an almost equal ratio of the C and T. In conclusion, the CTR allele is one of the genetic factors regulating body weight in Japanese women.

Absorptiometry, Photon↗
PubMed2004

[Analysis of the angiotensinogen gene T174M polymorphism in populations of the Volga-Ural region].

The method of polymerase chain reaction was used to analyze T174M polymorphism at the angiotensinogen (AGT) gene in a number of populations of the Volga-Ural region, belonging to Finno-Ugric (Komi-Permyaks, Maris, Mordovians, and Udmurts), Turkic (Chuvashes, Tatars, and Bashkirs), and Eastern-Slavic (Russians) ethnic groups. Population-specific patterns of the polymorphic alleles and genotypes frequency distribution were established. Comparison of the results with the literature data on the AGT gene polymorphism in different world populations provided identification of specific trends in the changes of genotype frequency of the AGT gene depending on the ethnicity of the populations.

Angiotensinogen↗
PubMed2006

Lack of association between COMT gene and deficit/nondeficit schizophrenia.

BACKGROUND: The dopamine dysregulation hypothesis of schizophrenia posits that positive, negative and cognitive symptoms correlate with cortical/subcortical imbalances in dopaminergic transmission. A functional polymorphism (Val158Met) in the catechol-O-methyltransferase (COMT) gene is implicated in the pathophysiology of schizophrenia by its effect on prefrontal dopamine transmission, and its unique impact on prefrontal cognitive and behavioral phenotypes. Cognitive impairments and negative symptoms in schizophrenia have been hypothesized to be associated with hypodopaminergic states. Schizophrenia patients with the deficit syndrome are characterized by primary enduring negative symptoms, impairment on neurocognitive tasks sensitive to frontal and parietal cortical functioning, and poorer functional outcome compared to non-deficit patients. METHODS: Eighty-six schizophrenia cases that met DSM-IV criteria for schizophrenia were recruited. Additional categorization into deficit and nondeficit syndrome was performed using the Schedule for the Deficit Syndrome (SDS). A healthy comparison group (n = 50) matched to cases on age and ethnicity was recruited. Allele and genotype frequencies of the Val158Met polymorphism were compared among healthy controls, and schizophrenia cases with the deficit (n = 21), and nondeficit syndrome (n = 65). RESULTS: There was a significant difference in Val/Val genotype frequencies between schizophrenia cases (combined deficit/nondeficit) and healthy controls (p = 0.004). No significant differences in allele or genotype frequencies were observed between deficit and nondeficit cases. CONCLUSION: Results from this preliminary analysis failed to show an effect of COMT gene on deficit schizophrenia.

Journal Article↗
PubMed1996

Italian population data on the loci LDLR, GYPA, HBGG, D7S8 and GC.

Allele and genotype frequencies for the five loci LDLR, GYPA, HBGG, D7S8 and GC were determined for 374 unrelated Italians using a multiplex PCR-amplification and typing commercial kit. The distribution of the genotype frequencies showed no deviations from Hardy-Weinberg expectations. The combined power of discrimination and chance of exclusion for all five loci were 0.999 and 0.702, respectively. A test for homogeneity was performed and no significant differences were observed among the Caucasian population samples.

Alleles↗
PubMed1996

[Restriction fragment length polymorphism of human renin gene in essential hypertension].

Essential hypertension is a heterogenous multifactorial disease resulting from an interaction between genetic and environmental factors. Nature of genes responsible for the blood pressure regulation is not completely understood. Data from molecular biology studies with animals indicate that renin gene is involved in the pathogenesis of hypertension. Renin gene is one of the major candidate genes contributing to the pathogenesis of essential hypertension in humans. The aim of this study was the assessment of the association of RFLPs of human renin gene with essential hypertension in Polish population and search for the genetic marker of susceptibility to the disease. MspI, HindIII and EcoT141 RFLP in human renin gene locus were studied and polymorphic allele and genotype frequencies in the population of 74 hypertensive and 60 normotensive subjects were compared. MspI and HindIII RFLP analysis has not shown any statistically significant differences in allele and genotype frequencies between hypertensives and normotensives. These RFLPs do not seem to be in association with essential hypertension in studied population. EcoT141 RFLP analysis has not shown statistically significant differences in polymorphic alleles frequencies between examined groups. However, the observed difference between genotype E2O frequencies in hypertensives (0.31) and normotensives (0.12) was statistically significant (p < 0.045). A clinical importance of this finding is not known but genotype E2O seems to be a potential marker of susceptibility to essential hypertension. Further investigations in larger group of patients are required.

Gene Frequency↗
PubMed2001

Analysis of gene polymorphisms in interleukin-10 and transforming growth factor-beta 1 in sarcoidosis.

BACKGROUND AND AIM OF WORK: Interleukin-10 (IL-10) and transforming growth factor-beta 1 (TGF-beta 1) are anti-inflammatory cytokines that play important roles in the immunoregulatory processes of numerous granulomatous diseases. In sarcoidosis polymorphisms (PMs) within these cytokine genes are suspected of modifing the course of the disorder. Therefore, we were interested in whether the genotype frequencies for a PM at position -1082 of the IL-10 or in codon 25 of the TGF-beta 1 gene differ in sarcoidosis or its distinct phenotypes in comparison with healthy individuals. METHODS: In 51 sarcoidosis patients and 72 healthy blood donors, genotyping for the named PMs was performed by PCR methodology and restriction enzyme digestion. Patients were retrospectively classified according to their course of disease, namely spontaneous remission, regressive under therapy, or chronic-progressive. RESULTS: For TGF-beta 1 PM the genotype frequencies ranged between 81.8-90.5, 9.6-13.9 and 0-5.3 percent for genotype GG, CG and CC respectively. For IL-10 PM the values ranged between 17.7-23.2, 54.4-68.4 and 21.1-26.4 percent for AA, AG and GG. Statistical comparisons of the allele and genotype frequencies between the clinical defined sarcoidosis groups and the healthy blood donors revealed no significant differences.

Adult↗
PubMed2006

[Serotonin transporter gene polymorphisms in irritable bowel syndrome and their impact on tegaserod treatment].

OBJECTIVE: To investigate the serotonin reuptake transporter (SERT) genetic polymorphisms in the 5-hydroxytryptamine (5-HT) transporter gene-linked polymorphic region (5-HTTLPR) and the variable number tandem repeats (VNTRs) in intron 2 among Chinese people, and their relationship to the pathogenesis of irritable bowel syndrome (IBS); and to investigate the impact of SERT genotypes on the efficacy of 5-HT(4) receptor agonist tegaserod in constipation predominant type (C-IBS) patients. METHODS: PCR was used to detect the genetic polymorphisms in 87 patients with IBS confirmed with Rome II criteria and 96 healthy subjects, then 41 C-IBS patients received tegaserod 6 mg twice daily for 4 weeks. Each patient recorded his or her symptoms in a diary. Efficacy was assessed by patient's experience of overall symptoms and severity of constipation before and after the treatment. RESULTS: The 5-HTTLPR genotypes frequencies were: S/S 52.9%, S/L 31.0%, L/L 16.1% in IBS patients; and S/S 57.3%, S/L 35.4%, L/L 7.3% in control. VNTRs genotypes were STin2.10/10: 2.3%, STin2.12/10: 17.2%, STin2.12/12: 80.5% in IBS patients; and STin2.10/10: 2.1%, STin2.12/10: 11.4%, STin2.12/12: 86.5% in control. There was no significant difference in the two genotypes frequencies between IBS and control groups (P > 0.05). However, the allele frequency of the L/L genotype was significantly higher in the C-IBS group than in control (25.0% vs 7.3%, P < 0.05). The clinical responder rates of tegaserod in S/S (85.0%) and S/L (70.0%) genotypes differed significantly from that (36.4%) in L/L genotype (P < 0.05). The scores of Subject's Global Assessment of relief after treatment were: S/S 1.35 +/- 0.81, S/L 1.70 +/- 0.95 vs L/L 2.27 +/- 0.45 (P < 0.05). All other variables for assessment of efficacy including stool frequency, stool consistency and sensation of bowel complete evacuation in L/L genotype were also significantly poorer than those in S/S and S/L (P < 0.05). CONCLUSIONS: 5-HTTLPR and VNTRs genetic polymorphisms existed in Chinese people. In general, the genotypes were not involved in the pathogenesis of IBS. However people with L/L genotype were vulnerable for development of C-IBS. The 5-HTTLPR genetic polymorphisms influenced the efficacy of tegaserod treatment in C-IBS patients with L/L being poorer than S/S and S/L genotypes.

Adult↗
PubMed2001

Analysis of an interferon-gamma gene dinucleotide-repeat polymorphism in Nordic multiple sclerosis patients.

The proinflammatory cytokine interferon (IFN)-gamma has been shown to influence the course of multiple sclerosis (MS). The IFN-gamma (IFNG) contains a multiallelic dinucleotide repeat in intron 1. To investigate whether alleles at this locus influence susceptibility to MS, we performed linkage and familial association analyses on 100 sibling pairs from four Nordic countries, and case-control association analysis on 220 intermediately disabled sporadic MS patients and 266 controls. To determine the effect of the polymorphism on disease outcome, we compared genotype frequencies in the most and least disabled octiles of a total cohort of 913 cases. We also measured IFN-gamma mRNA levels in unstimulated peripheral blood mononuclear cells from 46 MS patients and 27 controls grouped according to IFNG intron 1 genotype. Both nonparametric linkage analysis and transmission disequilibrium testing of the 100 sibling pairs produced negative results. Genotype frequencies for intermediate-MS patients did not differ significantly from those for controls; nor did genotype frequencies in the benign-MS octile differ significantly from those in the severe-MS octle. Comparison of IFN-gamma mRNA levels in genotype-conditioned subgroups revealed no significant differences. Thus, alleles at the IFNG intron 1 dinucleotide repeat appear to affect neither MS susceptibility and severity nor IFN-gamma mRNA expression in vivo.

Case-Control Studies↗
PubMed2003

[Investigation on the distribution and their effects on reproduction traits of three major genes in Jinhua pigs].

The PCR-RFLP technique was applied to analyze the distribution of estrogen receptor (ESR) gene, follicle-stimulating hormone beta subunit(FSH beta) gene and prolactin receptor (PRLR) gene in three lines of Jinhua pigs. The effect of ESR, FSH beta and PRLR on the reproductive traits was analyzed by the SPSS software. The results showed that: The genotype frequencies of AA, AB, BB for ESR were 0.0237, 0.3609, 0.6154 for Jinhua pig line I, 0, 0.5333, 0.4667 for Jinhua pig line II and 0.2909, 0.6, 0.1091 for Jinhua pig line III, respectively; The genotype frequencies of AA, AB, BB for PRLR were 0.2560, 0.3929, 0.3512 for Jinhua pig line I, 0.2, 0.2667, 0.5333 for Jinhua pig line II and 0.1273, 0.4909, 0.3818 for Jinhua pig line III, respectively; But only the Jinhua pig line I had the polymorphism of FSH beta, and with the low frequency of favorable allele B (0.0120). Significant associations were found for the ESR locus with the number of born alive (NBA) in later parities, the NBA and the total number of born (TNB) of all parities(P < 0.05) and the NBA of later parities (P = 0.061) in Jinhua pig line I. The additive effects of allele B were 0.70 and 0.66 for the NBA in later parities and all parities respectively, and 0.90 and 0.84 for the TNB in later parities and all parities respectively. No significant associations were found for the PRLR locus with the reproductive traits for Jinhua pigs in all parities and significant interactions of ESR and PRLR were found for the TNB and the NBA in all parities (P < 0.05) and for the female birth weight (FBW) in later parities (P < 0.01).

Animals↗
PubMed2004

[Gene polymorphisms of rennin-angiotensin system and coronary artery thrombosis disease].

To investigate the distribution frequencies of angiotensin-converting enzyme (ACE), angiotensinogen (AGT), angiotensin II I type receptor (AT1R) genotypes in Chinese, to find the relationships between polymorphisms of ACE, AGT and AT1R gene, and coronary artery thrombosis disease (CATD) and to study the interactions of themselves, PCR and PCR-RFLP techniques were performed to determine the genotypes of ACE, AGT and AT1R gene in CATD group (192 cases) and control group (110 cases). The results showed that (1) genotype frequencies of the three polymorphisms in the control group were 12.2% (DD), 43.9% (ID), and 43.9% (II) for the ACE I/D polymorphism; 8.2% (MM), 36.7% (MT), and 55.1% (TT) for AGT M235T polymorphism; 91.8% (AA), 8.2% (AC) for AT1R A1166C polymorphism respectively; (2) there were no significant differences between patients in either the control group, the non-MI group, or the MI group in any genotype frequency of all these three genes (P >0.05). (3) the odds ratio for CATD in subjects carrying both AT1R-AC and AGT-TT genotype was 3.517 (95% CI 0.988 - 12.527), compared with those carrying AT1R-AA and AGT-TT genotype and was 15.000 (95% CI 1.940-115.963), compared with those carrying AT1R-AC and AGT-MM/MT genotype. In subjects with AT1R-AC genotype, there was also a great difference of ACE D allele frequency between control group and CATD group (P=0.017). It is concluded that genotype frequencies of ACE I/D polymorphism, AGT M235T polymorphism, and AT1R A1166C polymorphism were obviously different from those in western countries. Although these three polymorphisms were not independent risk factors for CATD or myocardial infarction (MI) in Chinese, AT1R-AC genotype has a significant synergistic effect with AGT-TT genotype. There is also a obvious interaction between AT1R-AC genotype and ACE D allele.

Angiotensinogen↗
PubMed2001

GG-genotype in the promotor region of uncoupling-protein-1 gene is associated with lower level of dehydroepiandrosterone in type 2 diabetes.

The A-->G (-3826) point mutation within the distal region of the uncoupling-protein-1 (UCP-1) promoter is possibly involved in the development of obesity, diabetes and related disorders. DHEAS has been found to stimulate expression of UCP-1-mRNA. The aim of our study was to evaluate the prevalence of the three UCP-1 genotypes in type 2 diabetic patients out of a population based sample. Possible associations of A-->G mutation with serum levels of DHEAS and with obesity, diabetes and retinopathy were examined. - In 549 diabetic patients (312 males and 237 females) out of a population-based sample UCP-1 genotype was determined by genomic PCR and Bcl-I-RFLP analysis. Serum levels of DHEAS were measured by ELISA. - Genotype frequencies were: GG genotype, 4.4% (n= 24); AG genotype 37.3% (n=205) and AA genotype 58.3% (n= 320). The genotype groups were comparable with respect to sex, BMI, HbA1c, systolic blood pressure (BP), retinopathy and also to serum levels of C-peptide, leptin and cortisol. Serum levels of DHEAS were lowest in GG-genotype as compared to AG and AA (GG: 1.8+/-1.5 micromol/l, AG: 2.2+/-1.8 micromol/l, AA: 2.6+/-2.1 micromol/l; AA vs AG, AA vs GG: p<0.05). In a multiple linear regression analysis, which controlled for age, C-peptide, cholesterol, systolic BP, BMI, and HbA1c DHEAS was significantly negatively correlated with levels of cholesterol and positively with systolic BP only in females (p<0.05). - Allelic frequency for G in diabetic subjects was 0.23 which was similar as compared to a non-diabetic population examined by us in an earlier study. GG-genotype was associated with low levels of DHEAS in diabetic patients but not with retinopathy. We suggest a role for UCP-1 polymorphism in the pathogenesis of obesity and arteriosclerosis. This hypothesis, however, needs further investigation.

Aged↗
PubMed2003

Polymorphism of E. coli F18 receptor gene in different pig breeds.

The genetic variation of E. coli F18 receptor(ECF18R) loci in 867 pigs including Large Yorkshire, Landrace, Duroc, Ningxiang pig, Shaziling pig and Daweizi pig was detected by PCR-RFLP with Hin6 I. The results showed as follows: The three exotic breeds including Large Yorkshire, Landrace and Duroc were proved to be polymorphic at the Hin6 I-RFLP site. The average susceptibility genotype frequency of AG and GG in the exotic breeds was 0.94, G allelic frequency was 0.76. The C-->A mutation frequency at M307 site was very low in exotic breeds. The resistance genotype frequency of AA was 0.06. But the three native breeds including Ningxiang pig, Shaziling pig and Daweizi pig presented only GG genotype and no variation at the Hin6 I-RFLP site. The chi 2 value of ECF18R genotype distribution at the Hin6I-RFLP site in different pigs indicated that ECF18R genotype distribution of every exotic pig breed had significant or highly significant differences with three native pig breeds'. The ECF18R genotype distribution of three native pig breeds was the same completely. The others had no difference except that Landrace ECF18R genotype distribution had significant differences with Duroc's in the exotic breeds of pig.

Alleles↗
PubMedDate not supplied

Polymorphisms of arylamine N-acetyltransferase (NAT1 and NAT2) and larynx cancer susceptibility.

Our aim was to examine the role of NAT1 and NAT2 polymorphisms in human larynx cancer susceptibility. Genotype tests for NAT1 alleles *4, *10 and *11, and NAT2 alleles *4, *5, *6A and *7A, using PCR-RFLP analysis, were performed in 172 healthy Portuguese individuals and 88 patients with squamous cell carcinoma of the larynx. NAT1 and NAT2 genotype frequencies were correlated between patients and control groups, using the chi-square test. Odds ratios and 95% confidence intervals were calculated from 2 x 2 tables with the Fisher's exact model. The statistical analysis of NAT1 and NAT2 genotype frequencies revealed a significant difference of NAT1*10/*11 (p = 0.038) and NAT2*5/*7 (p = 0.003) genotype distribution between cases and controls. We also observed differences concerning tumor location, since NAT1*10/*11 genotype frequency was significantly different when comparing normal control individuals with the glottic subgroup of patients. The present data suggest that NAT1 and NAT2 polymorphisms may be correlated with an increased risk of larynx cancer.

Acetyltransferases↗
PubMed1994

Evidence for multiple genes determining sodium transport.

Sodium transport comprises a set of interacting systems. Consequently, a defective sodium transport gene affects multiple sodium transport systems, and a sodium transport variable measured on a sample of individuals reflects genetic variation from a number of different genes, complicating the task of identifying the effect of a single gene. To test for genes which affect sodium transport, we first applied principal components analysis to 14 variables related to sodium transport, thereby defining uncorrelated sources of variation in the variables. The sample consisted of 1,218 members of 68 pedigrees ascertained through probands with early-onset stroke, hypertension, or coronary heart disease. Segregation analysis of the 14 principal components scores provided evidence for 8 genetic variants which alter sodium transport. One of the 8 variants is recessive, has homozygous genotype frequency estimated as 8.8% of the population, and increases sodium-lithium countertransport, the passive sodium leak, body mass index, and triglyceride; the genetic variant may coincide with an insulin resistance gene. A second of the 8 variants is also recessive, has homozygous genotype frequency estimated as 7.4% of the population, and increases intraerythrocytic sodium and the passive sodium leak while decreasing sodium pump number; the genetic variant may reduce pump number. Two of the 8 variants substantially increase sodium-lithium countertransport; frequency estimates for heterozygotes for the dominant variant and homozygotes for the recessive variant equal 1.8% and 3.1%, respectively. Another of the 8 variants is recessive, has homozygous genotype frequency estimated as 1.9%, and increases body mass index. Each of the 3 remaining variants is rare and expressed in less than 1% of the sample.

Cardiovascular Diseases↗